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The protein encoded by C2orf71 is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment.
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We propose that the combination of heterozygous loss-of-function mutations in these genes drives syndromic retinal dystrophy (show MERTK Antibodies), likely through the genetic interaction of at least two loci.
On the basis of our multicenter analysis, C2orf71 might represent a more frequently mutated gene in autosomal recessive retinitis pigmentosa in some populations.
A homozygous nonsense CEP250 (show CEP250 Antibodies) mutation, in combination with a heterozygous C2orf71 nonsense mutation, causes an atypical form of Usher syndrome, characterised by early-onset sensorineural hearing loss and a relatively mild retinitis pigmentosa.
Novel C2orf71 mutations account for approximately 1% of cases in a large French arRP cohort.
C2ORF71 is a highly polymorphic gene (average heterozygosity of coding region in controls: 2.118 x 10(-3)) with many rare variants that confound mutation detection.
Mutations in C2orf71 cause autosomal-recessive retinitis pigmentosa.
Discovery and functional analysis of a retinitis pigmentosa gene, C2orf71, are reported.
The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa.
, uncharacterized protein C2orf71